Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1335096
Disease: Occult Lung Adenocarcinoma
Occult Lung Adenocarcinoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 2 0.010 None 1.000 1 2018 2018
CUI: C4268691
Disease: Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 		disease Disease or Syndrome 6 2 0.010 None 1.000 1 2011 2011
CUI: C0238258
Disease: Lymphangitis carcinomatosa
Lymphangitis carcinomatosa 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2020 2020
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 45 0.010 None 1.000 1 2018 2018
CUI: C0221214
Disease: Vascular ring
Vascular ring 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0025063
Disease: Mediastinal Neoplasms
Mediastinal Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C4324685
Disease: Hypertensive end-organ damage
Hypertensive end-organ damage 		disease Disease or Syndrome 9 0.010 None 1.000 1 2004 2004
CUI: C3274592
Disease: Lipofibromatosis
Lipofibromatosis 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C0278517
Disease: Non-small cell lung cancer recurrent
Non-small cell lung cancer recurrent 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 4 0.010 None 1.000 1 2013 2013
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 15 22 0.010 None 1.000 1 2010 2010
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
Anaplastic large B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 1 0.010 None 1.000 1 2015 2015
CUI: C0854988
Disease: Adenocarcinoma of lung, stage IV
Adenocarcinoma of lung, stage IV 		disease Neoplastic Process 19 6 0.020 None 1.000 2 2015 2018
CUI: C4684880
Disease: Advanced Bile Duct Carcinoma
Advanced Bile Duct Carcinoma 		disease Neoplastic Process 19 0.010 None 1.000 1 2016 2016
CUI: C0036211
Disease: Sarcoma 180
Sarcoma 180 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 20 1 0.010 None 1.000 1 2017 2017
CUI: C0085399
Disease: Ehrlichiosis
Ehrlichiosis 		disease Infections Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C0206703
Disease: Carcinoma, Giant Cell
Carcinoma, Giant Cell 		disease Neoplasms Neoplastic Process 21 0.010 None 1.000 1 2016 2016
CUI: C0334607
Disease: Psammomatous Meningioma
Psammomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 0.030 None 1.000 3 2016 2018
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 23 3 0.010 None 1.000 1 2007 2007
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2005 2005
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2013 2013
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2013 2013
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		disease Respiratory Tract Diseases Disease or Syndrome 29 0.010 None 1.000 1 2020 2020
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		phenotype Laboratory Procedure 29 51 0.100 None 1.000 1 1 2018 2018
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		disease Neoplasms Neoplastic Process 29 0.010 None 1.000 1 2013 2013